Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 184 Records) |
| Query Trace: RFC1[original query] |
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| Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. Journal of the neurological sciences 2021 9 430 118061. Abramzon Yevgenya, Dewan Ramita, Cortese Andrea, Resnick Susan, Ferrucci Luigi, Houlden Henry, Traynor Bryan |
| The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis. Medical science monitor : international medical journal of experimental and clinical research 2021 5 27 e929911. Yi Kang, Ma Yu-Hu, Wang Wei, Zhang Xin, Gao Jie, He Shao-E, Xu Xiao-Min, Ji Meng, Guo Wen-Fen, You T |
| Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring. European journal of pediatrics 2021 Apr . Qin Jiabi, Li Jinqi, Li Fang, Sun Mengting, Wang Tingting, Diao Jingyi, Zhang Senmao, Luo Liu, Li Yihuan, Chen Letao, Huang Peng, Zhu Pi |
| Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS genetics 2021 Mar 17 (3): e1009413. Patel Jenil, Bircan Emine, Tang Xinyu, Orloff Mohammed, Hobbs Charlotte A, Browne Marilyn L, Botto Lorenzo D, Finnell Richard H, Jenkins Mary M, Olshan Andrew, Romitti Paul A, Shaw Gary M, Werler Martha M, Li Jingyun, Nembhard Wendy N, |
| Influence of RFC1 c.80A>G Polymorphism on Methotrexate-Mediated Toxicity and Therapeutic Efficacy in Rheumatoid Arthritis: A Meta-analysis. The Annals of pharmacotherapy 2021 Mar 10600280211002053. Naushad Shaik Mohammad, Alrokayan Salman A, Almajhdi Fahad N, Hussain Tajam |
| The Role of Genetic Polymorphisms in High-Dose Methotrexate Toxicity and Response in Hematological Malignancies: A Systematic Review and Meta-Analysis. Frontiers in pharmacology 2021 12 757464. Song Zaiwei, Hu Yang, Liu Shuang, Jiang Dan, Yi Zhanmiao, Benjamin Mason M, Zhao Rongshe |
| Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
| Is Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? - A Case Report. Pharmacogenomics and personalized medicine 2022 5 15 465-475. Jeiziner Chiara, Allemann Samuel S, Hersberger Kurt E, Meyer Zu Schwabedissen Henriette |
| RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. European journal of neurology 2022 3 29 (7): 2156-2161. Beijer Danique, Dohrn Maike F, De Winter Jonathan, Fazal Sarah, Cortese Andrea, Stojkovic Tanya, Fernández-Eulate Gorka, Remiche Gauthier, Gentile Mattia, Van Coster Rudy, Dufke Claudia, Synofzik Matthis, De Jonghe Peter, Züchner Stephan, Baets Jonath |
| Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain : a journal of neurology 2022 3 145 (3): 1139-1150. Miyatake Satoko, Yoshida Kunihiro, Koshimizu Eriko, Doi Hiroshi, Yamada Mitsunori, Miyaji Yosuke, Ueda Naohisa, Tsuyuzaki Jun, Kodaira Minori, Onoue Hiroyuki, Taguri Masataka, Imamura Shintaro, Fukuda Hiromi, Hamanaka Kohei, Fujita Atsushi, Satoh Mai, Miyama Takabumi, Watanabe Nobuko, Kurita Yusuke, Okubo Masaki, Tanaka Kenichi, Kishida Hitaru, Koyano Shigeru, Takahashi Tatsuya, Ono Yoya, Higashida Kazuhiro, Yoshikura Nobuaki, Ogata Katsuhisa, Kato Rumiko, Tsuchida Naomi, Uchiyama Yuri, Miyake Noriko, Shimohata Takayoshi, Tanaka Fumiaki, Mizuguchi Takeshi, Matsumoto Naomic |
| Associations of variants of folate cycle genes with features of the clinical course of severe intraventricular hemorrhages in premature infants. Journal of neonatal-perinatal medicine 2022 3 15 (3): 545-551. Fishchuk L, Rossokha Z, Pokhylko V, Cherniavska Yu, Popova O, Tsvirenko S, Gorovenko |
| An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population. Journal of clinical medicine 2022 3 11 (5): . Zió?kowska Katarzyna, Tobo?a-Wróbel Kinga, Pietryga Marek, Kasprzak Gra?yna, Jamsheer Aleksander, Wysocka E |
| Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte. Molecular genetics and genomics : MGG 2022 11 298 (1): 293-313. Halder Pinku, Pal Upamanyu, Ganguly Agnish, Ghosh Papiya, Ray Anirban, Sarkar Sumantra, Ghosh Suj |
| Lifestyle and dietary factors, iron status and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a Transfusion Medicine Unit: a cross-sectional study. The British journal of nutrition 2022 10 1-6. Bortolus Renata, Filippini Francesca, Chiaffarino Francesca, Udali Silvia, Rinaldi Marianna, Gandini Giorgio, Montagnana Martina, Lippi Giuseppe, Olivieri Oliviero, Parazzini Fabio, Friso Simonet |
| RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain communications 2023 8 5 (4): fcad208. Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Darshan Ghia, Robert D Henderson, Nerissa Jordan, Antony Winkel, Phillipa J Lamont, Miriam J Rodrigues, Richard H Roxburgh, Ben Weisburd, Nigel G Laing, Ira W Deveson, Mark R Davis, Gianina Ravenscro |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Polymorphisms in Maternal Selected Folate Metabolism-Related Genes in Neural Tube Defect-Affected Pregnancy. Advanced biomedical research 2023 8 12 160. Winner K Dewelle, Daniel S Melka, Abenezer T Aklilu, Mahlet Y Gebremariam, Markos A Alemayehu, Dawit H Alemayehu, Tamrayehu S Woldemichael, Solomon G Geb |
| Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
| Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. Movement disorders : official journal of the Movement Disorder Society 2023 12 . Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernande-Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines Albajar, Rhiannon Laban, Alexander M Rossor, Anna Pichiecchio, Giuseppe Cosentino, Paola Saveri, Ettore Salsano, Francesca Andreetta, Enza M Valente, Henrik Zetterberg, Paola Giunti, Tanya Stojkovic, Chiara Briani, Adolfo López de Munain, Davide Pareyson, Mary M Reilly, Henry Houlden, Cristina Tassorelli, Andrea Corte |
| Single-nucleotide polymorphism profiling by multimodal-targeted next-generation sequencing in methotrexate-resistant and -sensitive human osteosarcoma cell lines. Frontiers in pharmacology 2023 12 14 1294873. Chiara Casotti, Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Michela Pasello, Katia Scotlandi, Toni Ibrahim, Massimo Ser |
| Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics 2023 11 . Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Far |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease. Journal of neurology 2024 6 . Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöbe |
| Modification Effects of Homologous Recombination Repair Gene Polymorphisms on the Associations Between Urinary Metals and Breast Cancer Risk. Biological trace element research 2024 5 . Shushu Han, Minjie Lu, Yixin Zhang, Ying Lin, Qiang Liu, Lin Xu, Zefang R |
| Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1). Archivos de bronconeumologia 2024 5 . Esther Palones, Vicente Plaza, Lidia Gonzalez-Quereda, Alba Segarra-Casas, Luis Querol, Federico Bertoletti, María José Rodriguez, Pía Gallano, Astrid Crespo-Lessma |
| RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurology. Genetics 2024 4 10 (3): e200149. Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoul |
| Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study. International journal of reproductive biomedicine 2024 4 22 (2): 127-138. Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-A |
| Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter. Genome research 2024 10 . Niccolo Tesi, Alex Salazar, Yaran Zhang, Sven van der Lee, Marc Hulsman, Lydian Knoop, Sanduni Wijesekera, Jana Krizova, Anne-Fleur Schneider, Maartje Pennings, Kristel Sleegers, Erik-Jan Kamsteeg, Marcel Reinders, Henne Holste |
| Correlation between gene polymorphism and adverse reactions of high-dose methotrexate in osteosarcoma patients: a systematic review and meta-analysis. World journal of surgical oncology 2024 1 22 (1): 19. Ben Liu, Gang Liu, Binbin Liu, Yao Guo, Ningning Peng, Tiejun |
| Repeat expansions in RFC1 gene in refractory chronic cough. ERJ open research 2025 1 11 (1): . Barnaby Hirons, Peter S P Cho, Katie Rhatigan, Joe Shaw, Riccardo Curro, Bianca Rugginini, Natalia Dominik, Richard D Turner, Ewan Mackay, James H Hull, Hisham Abubakar-Waziri, Harini Kesavan, Caroline J Jolley, Robert D Hadden, Andrea Cortese, Surinder S Birri |
- Page last reviewed:Feb 1, 2024
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